A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.

Human Reproduction
Peng YuanJie Qiao

Abstract

Is a novel homozygous phospholipase C zeta (PLCζ), c.1658 G>C; p. R553P mutation in the C2 domain associated with the outcomes of recurrent fertilization failure after ICSI? PLCζ, c.1658 G>C led to defective human oocyte activation and fertilization failure, while this mutation in the C2 domain of PLCζ did not compromise concentration, motility and chromosome ploidy of sperm. Sperm-specific PLCζ is now widely considered to be the physiological stimulus that evokes intracellular calcium (Ca2+) oscillations, which are essential for egg activation during mammalian fertilization. Thus far, few genetic studies have shown that different point mutations in the PLCζ gene are associated with male infertility. This was a basic medical research to assess pathogenicity for novel mutation in the C2 domain of PLCζ during human fertilization. Single-cell omics were applied to analyze the DNA methylation state of the fertilization failure oocytes and the ploidy of the patient's sperm. Whole genome sequencing data for the patient were analyzed for mutations in PLCζ. Sanger sequencing confirmed the presence of a rare variant, and then the mutant and wild-type PLCζ mRNA were injected to observe oocyte activation. The fertilization failure oocytes...Continue Reading

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Citations

Oct 22, 2020·Seminars in Reproductive Medicine·Robert John Aitken
Dec 5, 2020·Journal of Clinical Medicine·Arantxa Cardona BarberánBjörn Heindryckx
Oct 27, 2020·Frontiers in Endocrinology·Robert John Aitken, Mark A Baker

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